Genomic sequencing has moved remarkably quickly from a research tool to a routine part of healthcare. In England, whole-genome sequencing is now embedded within the NHS Genomic Medicine Service, helping diagnose rare diseases and guide treatment decisions for some cancers. New initiatives, including the Generation Study evaluating genomic newborn screening, suggest that genomic medicine may soon play an even broader role in healthcare.

But as sequencing becomes more widely available, a critical question remains: does it provide good value for money?

A new systematic review led by Fred McElwee at the University of Oxford and co-authored by myself, Sarah Wordsworth, Sally Sansom and Jenny Taylor, recently published in the European Journal of Human Genetics, sought to answer that question by examining the global evidence on the costs and cost-effectiveness of whole-exome sequencing (WES) and whole-genome sequencing (WGS). The review is available here:

https://www.nature.com/articles/s41431-026-02146-2

The review updates our previous systematic review published in 2018:

https://www.gimjournal.org/article/S1098-3600(21)04673-6/fulltext

The difference between the two reviews is striking. In 2018, we concluded that the health economic evidence base for WES and WGS was still very limited. At that time, only 22 full-text cost or cost-effectiveness studies had been published. The updated review identified 123 comparable full-text studies published between 2016 and 2024, demonstrating how rapidly the field has matured.

This growth reflects both the increasing use of sequencing in clinical practice and the recognition that evidence on costs and value is essential for healthcare decision-making. Most studies have focused on using WES and WGS as diagnostic tools, particularly for rare diseases. Across many settings, sequencing was found to be cost-effective and, in some cases, even cost-saving compared with conventional diagnostic pathways. By shortening lengthy diagnostic journeys, avoiding unnecessary investigations, and informing clinical management earlier, sequencing can generate benefits for both patients and healthcare systems.

The evidence was also generally favourable for pathogen sequencing, where genomic information can support infection control and outbreak management. However, the review identified a major imbalance in the evidence base. Despite growing interest in genomic screening, the evidence base remains surprisingly limited. Across the 130 studies identified, only five evaluated the use of whole-exome or whole-genome sequencing in prenatal, newborn, or population screening settings.

This finding is particularly relevant given the ambitions set out in the NHS 10 Year Health Plan for England. A central theme of the plan is the shift from treating illness to preventing it, alongside a greater emphasis on earlier diagnosis, personalised care, and the use of advanced technologies to improve outcomes and productivity. Genomics has an important role to play in this vision, with genomic information offering the potential to identify disease risks earlier, target interventions more effectively, and support more personalised treatment pathways.

If healthcare systems are to expand genomic testing beyond diagnosis and into screening and prevention, robust economic evidence will be essential. Policymakers need to know not only whether genomic technologies work, but whether they represent good use of limited healthcare resources. Our review suggests that the evidence supporting diagnostic applications is becoming increasingly mature, but that the evidence base for screening and prevention remains comparatively underdeveloped.

Another important finding was the uneven geographical distribution of evidence. Most studies originated from North America, Europe, Australia, and Canada. We found very little published health economic evidence relating to WES or WGS from South America, Africa, or much of Asia.

This matters because the value of genomic sequencing is highly context-dependent. Costs, healthcare pathways, treatment availability, disease prevalence, and willingness-to-pay thresholds differ substantially between countries. Evidence generated in England, Australia, or Canada cannot automatically be assumed to apply elsewhere.

As investments in genomic medicine continue to expand globally, there is a major opportunity to generate locally relevant health economic evidence from currently underrepresented regions. Such evidence will be essential for informing implementation decisions, ensuring efficient use of resources, and understanding whether findings from high-income settings translate to different healthcare systems and population contexts.

The broader lesson from this review is that the economics of genomics is no longer a niche research area. As whole-exome and whole-genome sequencing become embedded across healthcare systems, understanding their costs, benefits, and value for money is becoming increasingly important for policymakers, clinicians, and patients alike. Encouragingly, the evidence base has expanded dramatically over the past decade. The challenge now is ensuring that it grows in the areas where the biggest policy decisions still lie ahead: screening, prevention, and implementation across a wider range of global healthcare systems.